[Application of zinc agents in Wilson's disease].

Wilson's disease (WD) is a kind of inherited metabolic liver disease in which most patients need lifelong medication to maintain copper homeostasis in the body. Zinc is one of the most commonly used drugs for WD treatment. However, there are currently few high-quality, large-sample, and prospective clinical trials on zinc agent-treated WD. The selection and application of zinc agents are mainly based on patients' clinical phenotype, tolerance to zinc agents, and physicians' experience in treating WD. This article summarizes the application of zinc agents in WD.

[Research progress on the effect of hepatitis B virus DNA integration on antiviral therapy].

Hepatitis B virus (HBV) DNA integration occurs during the reverse transcription process of HBV replication, which develops in the early stages of HBV infection and accompanies the entire disease course. The integration of HBV DNA is detrimental to the attainment of clinical cure goals and also raises the risk of developing liver cancer. Theoretically, nucleos(t)ide analogs can reduce the synthesis of new double-stranded linear DNA, but there is no clearance function for hepatocytes that have already integrated HBV. Therefore, patients with serum HBV DNA-negative conversions still have the risk of developing liver cancer. As an immunomodulatory drug, interferon can not only inhibit viral replication but also inhibit or even eliminate existing clonally amplified hepatocytes carrying integrated HBV DNA fragments. However, there are currently few studies on the effects of nucleos(t)ide analogues and interferon therapy on HBV DNA integration. Thus, large-scale clinical studies are urgently needed for further clarification.

[Prevalence and influencing factors of abnormal spinal curvature in primary and secondary school students in Shandong Province in 2020].

In 2020, the prevalence of abnormal spinal curvature among 54 079 students in Shandong Province was 1.54%. The multivariate logistic regression model analysis showed that, compared with those in primary school, economically underdeveloped areas, and non-residential schools, students in middle and high schools, economically average areas, and residential schools had a higher risk of abnormal spinal curvature, with OR (95%CI) values of 2.029 (1.662-2.476), 2.746 (2.208-3.416), 2.237 (1.740-2.875) and 2.057 (1.705-2.483), respectively. Compared with those in economically underdeveloped areas, who were underweight, who had seat adjustments≤1 time per academic year, and who had physical education classes≤1 per week, students in economically developed areas, who were normal weight, overweight, and obese, who had seat adjustments≥2 times per academic year, and who had physical education classes 2-3 or≥4 per week, had a lower risk of abnormal spinal curvature, with OR (95%CI) values of 0.690 (0.521-0.915), 0.722 (0.546-0.955), 0.535 (0.389-0.735), 0.383 (0.274-0.535), 0.835 (0.711-0.980), 0.561 (0.474-0.663) and 0.491 (0.315-0.766), respectively.

[A family study of the compound heterozygous mutation of the UGT1A1 gene causing Crigler-Najjar syndrome type II].

Objective: To investigate the family gene features in Crigler-Najjar syndrome (CNS) type II. Methods: The UGT1A1 gene and related bilirubin metabolism genes were comprehensively analysed in a CNS-II family (3 CNS-II, 1 Gilbert syndrome, and 8 normal subjects). The genetics basis of CNS-II were investigated from the perspective of family analysis. Results: In three cases, compound heterozygous mutations at three sites of the UGT1A1 gene (c.-3279T > G, c.211G > A and c.1456T > G) caused CNS-II. Gilbert syndrome and CNS-II were not significantly associated with distribution or diversity loci. Conclusion: The compound heterozygous pathogenic mutations (c.-3279T > G, c.211G > A, and c.1456T > G) at three loci of the UGT1A1 gene may be the feature of the newly discovered CNS-II family genes based on the CNS-II family study.

[Nonalcoholic fatty liver disease and bilirubin: correlation, mechanism, and therapeutic perspectives].

Non-alcoholic fatty liver disease (NAFLD) is a metabolic-related disorder induced by multiple factors and mainly characterized by excessive fat buildup in hepatocytes. With the consumption of a Western-style diet and obesity prevalence in recent years, the incidence of NAFLD has gradually increased, becoming an increasingly serious public health problem. Bilirubin is a heme metabolite and a potent antioxidant. Studies have demonstrated that bilirubin levels have an inverse correlation with the incidence rate of NAFLD; however, which form of bilirubin plays the main protective role is still controversial. It is considered that the main protective mechanisms for NAFLD are bilirubin antioxidant properties, insulin resistance reduction, and mitochondrial function. This article summarizes the correlation, protective mechanism, and possible clinical application of NAFLD and bilirubin.

[Epidemiological characteristics of familiar adult inherited metabolic liver disease].

Inherited metabolic liver diseases can occur in multi-age groups such as children, adolescents, adults, and others. With the improvement of diagnosis and treatment levels, more and more patients with childhood-onset diseases are surviving into adulthood. Some diseases originally faced by pediatric hepatologists also appear in adult hepatology clinics. This raises new challenges for adult hepatologists, requiring them to master more professional knowledge. However, specific data on the incidence rate of most inherited metabolic liver diseases is still lacking in our country. This article reviews the research progress of hereditary metabolic liver diseases and summarizes the epidemiological characteristics of familiar hereditary metabolic liver diseases in China.

[Introduction to the recommendations from the European Association for the Study of the Liver clinical practice guidelines on the management of cystic liver disease].

The diagnosis of cystic liver disease has made great progress with the advent of enhanced imaging techniques. At the same time, its management has gradually improved over the past few decades, providing the basis for the development of appropriate diagnostic and treatment guidelines. To this end, the European Association for the Study of the Liver has developed clinical guidelines for the diagnosis and treatment of non-infectious cystic liver disease. This guideline put forward recommendations based on an in-depth review of the relevant literature for addressing clinical issues, including the diagnosis and treament of hepatic cysts, hepatic mucocystic tumors, biliary hamartomas, polycystic liver disease, Caroli disease or Caroli syndrome, biliary hamartomas, and peribiliary cyst.

[Recommendations of EASL clinical practice guidelines on haemochromatosis].

Haemochromatosis is characterised by elevated transferrin saturation (TSAT) and progressive iron loading that mainly affects the liver. Early diagnosis and treatment by phlebotomy can prevent cirrhosis, hepatocellular carcinoma, diabetes, arthropathy and other complications. In patients homozygous for p.Cys282Tyr in HFE, provisional iron overload based on serum iron parameters (TSAT >45% and ferritin >200 µg/L in females and TSAT >50% and ferritin >300 µg/L in males and postmenopausal women) is sufficient to diagnose haemochromatosis. In patients with high TSAT and elevated ferritin but other HFE genotypes, diagnosis requires the presence of hepatic iron overload on MRI or liver biopsy. The stage of liver fibrosis and other end-organ damage should be carefully assessed at diagnosis because they determine disease management. Patients with advanced fibrosis should be included in a screening programme for hepatocellular carcinoma. Treatment targets for phlebotomy are ferritin <50 µg/L during the induction phase and <100 µg/L during the maintenance phase.

[Expert consensus on measurement and clinical application of serum HBV RNA in patients with chronic HBV infection].

Since the discovery of circulating hepatitis B virus (HBV) RNA in the peripheral blood of patients with chronic hepatitis B in 1996, a growing number of studies have focused on clarifying the biological characteristics and clinical application value of serum HBV RNA. This consensus mainly summarizes the research progress of serum HBV RNA existing profiles, quantitative detection methods, and current clinical applications. In order to better apply this indicator for the clinical management of patients with chronic HBV infection, recommendations on quantitative detection target regions, detection results, and clinical applications are put forward.

[Interpretation of the 2022 edition guidelines for hepatolenticular degeneration diagnosis and treatment].

In order to help liver disease-related clinicians make rational decisions, the Inherited and Metabolic Liver Disease Cooperative Group of Hepatology Branch of Chinese Medical Association released the 2022 edition guidelines for hepatolenticular degeneration diagnosis and treatment. This article introduces the ten highlights of this guideline from the aspects of epidemiology, pathogenesis, clinical characteristics, laboratory tests, diagnosis, treatment, monitoring, and so forth, with practicality and operability as prominent features.

[Clinical application of serum Golgi protein 73 in patients with chronic liver diseases].

Golgi protein 73 (GP73) is a transmembrane protein on the Golgi apparatus and can be cut and released into the blood. In recent years, an increasing number of clinical studies have shown that the elevated serum GP73 level is closely related to liver diseases. And thus GP73 is expected to be used as a new serum marker for assessing progress of chronic liver diseases. Herein, the clinical application of serum GP73 in chronic hepatitis, liver fibrosis, liver cirrhosis and hepatocellular carcinoma with different etiologies was reviewed based on available literatures; and a research outlook in this field is made.

[Management of hepatolenticular degeneration during pregnancy].

Hepatolenticular degeneration (Wilson's disease, WD) is a kind of autosomal recessive genetic disease characterized by disorders of copper metabolism. It is caused by mutations in the ATP7B gene, resulting in impaired excretion of copper into the bile, and then pathological deposition in the liver, brain, and other organs. Early diagnosis and treatment can significantly improve the prognosis of patients with WD. However, there is still no clear consensus on the treatment and management of WD during pregnancy. Herein, the clinical management of WD during pregnancy is summarized for clinicians' reference.

[An introduction to multidisciplinary recommendations for Wilson's disease comprehensive diagnosis and management: 2022 practice guidance from the American Association for the Study of Liver Diseases].

The incidence of Wilson's disease (WD) is global, with an estimated prevalence rate of 30 per million or higher. WD clinical manifestations can be liver disease, progressive neurologic deficits (non evident or even absent liver dysfunction), psychiatric disorders, or a combination of these. Children and younger patients are more likely to develop WD as an isolated liver disease than older patients. Symptoms are often vague and can appear at any age. To that end, in 2022, the American Association for the Study of Liver Diseases published the full version of the WD guidelines and recommendations developed by a panel of experts, providing a modern approach for WD diagnosis and management in an effort to assist clinicians in implementing the most recent diagnostic and management strategies.

[Rifaximin improves clinical symptoms and short-term survival in cirrhotic patients with refractory type ascites].

Objective: To investigate the effects of rifaximin treatment outcomes on complications and 24-week survival rate in cirrhotic patients with refractory type ascites. Methods: A retrospective cohort study was conducted on 62 cases with refractory ascites, and were divided into rifaximin treatment group (42 cases) and control group (20 cases) according to the actual treatment conditions. Rifaximin treatment group patients were administered oral rifaximin-α 200 mg four times daily for 24 consecutive weeks, and the other treatments were basically the same in both groups. Fasting body weight, ascites, complications and survival rate between the two groups were observed. Measurement data of the two groups using t-test, Mann-Whitney U test, and repeated measures analysis of variance were compared. χ2 test or Fisher's exact test were used to compare the enumeration data between the two groups. Kaplan-meier survival analysis was used to compare the survival rates. Results: At 24-week of rifaximin treatment, patients average body weight was reduced by 3.2 kg and the average ascites depth was reduced by 4.5 cm with B-ultrasound measurement, while in the control group at 24-week, the average body weight was reduced by 1.1 kg and the average ascites depth was reduced by 2.1 cm with B-ultrasound measurement, and the differences between the two groups were statistically significant (F=4.972, P=0.035; F=5.288, P=0.027). Hepatic encephalopathy incidence of grade II or above, hospitalization rates due to exacerbation of ascites, and spontaneous bacterial peritonitis were significantly lower in the rifaximin treatment group than those in the control group (2.4% vs. 20.0%, χ2=5.295, P=0.021; 11.9% vs. 50.0%, χ2=10.221, P=0.001; 7.1% vs. 25.0%, χ2=3.844, P=0.050). The 24-week survival rate was 83.3% in the rifaximin treatment group and 60.0% in the control group, P=0.039. Conclusion: Rifaximin treatment can significantly improve ascites symptoms, reduce the incidence of cirrhosis complications and improve the 24-week survival rate in cirrhotic patients with refractory type ascites.

[Considerations on pathological diagnosis of inherited metabolic liver disease].

A liver biopsy has an important suggestive role in the diagnosis of inherited metabolic liver disease (IMLD). This article introduces the IMLD pathological diagnosis considerations, five types of classification of liver biopsy based on the morphological characteristics (basic normal liver tissue morphology, steatosis, cholestatic disease, storage/deposition, and hepatitis), and a summary of the pathological characteristics of different injury patterns and common diseases in order to provide clues for the correct diagnosis.

[A brief talk on the diagnostic principle for inherited metabolic liver disease in adult].

There are many types of inherited metabolic liver diseases, with diverse and non-specific clinical manifestations. Therefore, the problem of misdiagnosis and missed diagnosis is more prominent in clinical practice, and it is a problematic issue encountered by clinicians. The dependency of diagnosis is on comprehensive analysis of clinical manifestations, laboratory, imaging, liver biopsy, and genetic examinations. This article reviews the diagnostic principle for inherited metabolic liver disease in adult.